Pompe disease: A rare inherited biochemical disorder where insufficient maltase acid results in accumulation of glycogen. The condition is often fatal in infants, causes mental retardation, hypotonia and a short life in children and progressive muscle weakness in adults. Also called glycogen storage disease type II. More detailed information about the symptoms, causes, and treatments of Pompe disease is available below.
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An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) - (Source - Diseases Database)
Pompe disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Pompe disease, or a subtype of Pompe disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Pompe disease as a "rare disease".
Source - Orphanet
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